Tıp Fakültesi

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Clinical and Genetic Spectrum of Myotonia Congenita in Turkish Children
(IOS press, 2023) Özgün, Nezir
Background: Myotonia congenita is the most common form of nondystrophic myotonia and is caused by Mendelian inherited mutations in the CLCN1 gene encoding the voltage-gated chloride channel of skeletal muscle. Objective: The study aimed to describe the clinical and genetic spectrum of Myotonia congenita in a large pediatric cohort. Methods: Demographic, genetic, and clinical data of the patients aged under 18 years at time of first clinical attendance from 11 centers in different geographical regions of Türkiye were retrospectively investigated. Results: Fifty-four patients (mean age:15.2 years (±5.5), 76% males, with 85% Becker, 15% Thomsen form) from 40 families were included. Consanguineous marriage rate was 67%. 70.5% of patients had a family member with Myotonia congenita. The mean age of disease onset was 5.7 (±4.9) years. Overall 23 different mutations (2/23 were novel) were detected in 52 patients, and large exon deletions were identified in two siblings. Thomsen and Becker forms were observed concomitantly in one family. Carbamazepine (46.3%), mexiletine (27.8%), phenytoin (9.3%) were preferred for treatment. Conclusions: The clinical and genetic heterogeneity, as well as the limited response to current treatment options, constitutes an ongoing challenge. In our cohort, recessive Myotonia congenita was more frequent and novel mutations will contribute to the literature.
Early puberty paradox: an investigation of anxiety levels of mothers and children, children's quality of life, and psychiatric diagnoses
(SpringerLink, 2023) Özbek, Mehmet Nuri; Kardaş, Ömer; Demiral, Meliha; Özbek, Mehmet Nuri
Early puberty signs lead to an increase in anxiety levels of parents and children. The aim of this study was to investigate the quality of life and anxiety levels of girls and their mothers who were admitted to a pediatric endocrinology clinic with concerns about early puberty. Girls and their mothers who were admitted to endocrinology outpatient clinic with concerns about early puberty were compared to healthy control group. Screen for Child Anxiety Related Emotional Disorders (SCARED) parent form, Quality of Life for Children Scale (PedsQL) parent form, and Beck Anxiety Inventory (BAI) were administered to the mothers. Children were evaluated with the Schedule for Afective Disorders and Schizophrenia for School-Age Children (Kiddie-SADS Lifetime Version) (K-SADS-PL). The study sample consisted of 92 girls and 62 of them were administered to clinic with concerns about early puberty. There were 30 girls in early puberty group (group 1), 32 girls were in the normal development group (group 2), and 30 were in the healthy control group (group 3). The anxiety level of group 1 and group 2 was signifcantly higher, and their quality of life was signifcantly lower when compared to group 3 (p<0.001). Mother’s anxiety level was found signifcantly higher in group 2 (p<0.001). It has shown that anxiety level and quality of life of children were associated with anxiety level of mothers and the current Tanner stage (r=0.302, p<0.005). Conclusion: Mothers and children who have concerns about early puberty are negatively afected when early puberty is a possibility. For this reason, educating parents will prevent negative impacts of this situation on children. At the same time, it will decrease health burden.
The prognostic value of ORBIT risk score in predicting major bleeding in patients with acute coronary syndrome
(ELSEVIER, 2023) Günlü, Serhat; Kayan, Fethullah; Kılıç, Raif; Aktan, Adem; Kılıç, Raif; Aktan, Adem; Bernas, Altıntaş; Karahan, Mehmet Zülkif
Background: The most significant adverse effect of antithrombotic medication in acute coronary syndrome (ACS) is major bleeding, which is related to increased mortality. Studies on ORBIT risk score in predicting major bleeding in ACS patients are limited. Objective: This research aimed to examine whether the ORBIT score calculated at the bedside can identify major bleeding risk in patients with ACS. Methods: This research was retrospective, observational, and conducted at a single center. Analyses of receiver operating characteristics (ROC) were utilized to define the diagnostic value of CRUSADE and ORBIT scores. The predictive performances of the two scores were compared using DeLong's method. Discrimination and reclassification performances were evaluated by the integrated discrimination improvement (IDI), and net reclassification improvement (NRI). Results: The study included 771 patients with ACS. The mean age was 68.7 ± 8.6 years, with 35.3 % females. 31 patients had major bleeding. Twenty-three of these patients were BARC 3 A, five were BARC 3 B, and three were BARC 3 C. Bleeding history [OR (95 % CI), 2.46 (1.02–5.94), p = 0.021], hemoglobin levels [OR (95 % CI), 0.54 (0.45–0.63), p < 0.001], and age > 74 years [OR (95 % CI), 1.03 (1.01–1.06), p = 0.039] were independent predictors of major bleeding. The ORBIT score was an independent predictor of major bleeding in the multivariate analysis: continuous variables [OR (95 % CI), 2.53 (2.61–3.95), p < 0.001] and risk categories [OR (95 % CI), 3.06 (1.69–5.52), p < 0.001]. Comparison of c-indexes for major bleeding events revealed a non-significant difference for the discriminative ability of the two tested scores (p = 0.07) with a continuous NRI of 6.6 % (p = 0.026) and an IDI of 4.2 % (p < 0.001). Conclusion: In ACS patients, the ORBIT score independently predicted major bleeding.
The prognostic value of ORBIT risk score in predicting major bleeding in patients with acute coronary syndrome
(ScienceDirect, 2023) Günlü, Serhat; Kayan, Fethullah; Kılıç, Raif; Aktan, Adem; Kılıç, Raif; Aktan, Adem; Altintaş, Bernas; Karahan, Mehmet Zülkif
Background: The most significant adverse effect of antithrombotic medication in acute coronary syndrome (ACS) is major bleeding, which is related to increased mortality. Studies on ORBIT risk score in predicting major bleeding in ACS patients are limited. Objective: This research aimed to examine whether the ORBIT score calculated at the bedside can identify major bleeding risk in patients with ACS. Methods: This research was retrospective, observational, and conducted at a single center. Analyses of receiver operating characteristics (ROC) were utilized to define the diagnostic value of CRUSADE and ORBIT scores. The predictive performances of the two scores were compared using DeLong's method. Discrimination and reclassification performances were evaluated by the integrated discrimination improvement (IDI), and net reclassification improvement (NRI). Results: The study included 771 patients with ACS. The mean age was 68.7 ± 8.6 years, with 35.3 % females. 31 patients had major bleeding. Twenty-three of these patients were BARC 3 A, five were BARC 3 B, and three were BARC 3 C. Bleeding history [OR (95 % CI), 2.46 (1.02-5.94), p = 0.021], hemoglobin levels [OR (95 % CI), 0.54 (0.45-0.63), p < 0.001], and age > 74 years [OR (95 % CI), 1.03 (1.01-1.06), p = 0.039] were independent predictors of major bleeding. The ORBIT score was an independent predictor of major bleeding in the multivariate analysis: continuous variables [OR (95 % CI), 2.53 (2.61-3.95), p < 0.001] and risk categories [OR (95 % CI), 3.06 (1.69-5.52), p < 0.001]. Comparison of c-indexes for major bleeding events revealed a non-significant difference for the discriminative ability of the two tested scores (p = 0.07) with a continuous NRI of 6.6 % (p = 0.026) and an IDI of 4.2 % (p < 0.001). Conclusion: In ACS patients, the ORBIT score independently predicted major bleeding.

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